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NM_001083619.3(GRIA2):c.2297C>T (p.Ala766Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002764287.2

Allele description [Variation Report for NM_001083619.3(GRIA2):c.2297C>T (p.Ala766Val)]

NM_001083619.3(GRIA2):c.2297C>T (p.Ala766Val)

Gene:
GRIA2:glutamate ionotropic receptor AMPA type subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_001083619.3(GRIA2):c.2297C>T (p.Ala766Val)
HGVS:
  • NC_000004.12:g.157361015C>T
  • NM_000826.6:c.2292-523C>T
  • NM_001083619.3:c.2297C>TMANE SELECT
  • NM_001083620.3:c.2151-523C>T
  • NM_001379000.3:c.2156C>T
  • NM_001379001.3:c.2151-523C>T
  • NP_001077088.2:p.Ala766Val
  • NP_001365929.3:p.Ala719Val
  • NC_000004.11:g.158282167C>T
  • NM_001083619.1:c.2297C>T
Protein change:
A719V
Molecular consequence:
  • NM_000826.6:c.2292-523C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083620.3:c.2151-523C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379001.3:c.2151-523C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083619.3:c.2297C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379000.3:c.2156C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003750621Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 25, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003750621.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2297C>T (p.A766V) alteration is located in exon 14 (coding exon 14) of the GRIA2 gene. This alteration results from a C to T substitution at nucleotide position 2297, causing the alanine (A) at amino acid position 766 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024